ATP23 helps mitochondria, the parts of your cells that make energy, put together ATP synthase, one of the main machines used to produce that energy. If the ATP23 gene does not work properly, cells may struggle to make enough energy, which can affect organs with high energy needs such as the brain, muscles, and heart. Rare severe variants have been linked to conditions caused by poor cell energy production, sometimes with developmental delay, low muscle tone, movement problems, or seizures.
What is a gene?
Genes are segments of DNA that provide your cells with instructions to make molecules or direct processes in the body. Some genes hold the code for producing proteins, the parts of cells that carry out the work. Others are used mainly to regulate when certain processes happen, where they take place, and how strongly they operate. Together, genes affect how the body develops and functions, and they can also shape how you respond to food, stress, or medications. If you want to go into this topic in more detail, you can read more in the LearnHub.
Overview
ATP23Gene function
What if the gene works
The ATP23 gene helps mitochondria assemble ATP synthase, the enzyme that makes most of your cells' usable energy. This supports steady energy production, especially in tissues with high energy needs.
Risk
What if the gene does not work
Variants in the ATP23 gene can disrupt mitochondrial energy production and cause a rare mitochondrial condition with developmental delay, muscle weakness, and movement problems. Milder or more severe variants may change when symptoms begin and how strongly they affect someone.
Treatment
What does that mean for your treatment
For people with a pathogenic or loss-of-function variant in the ATP23 gene, no ATP23-specific treatment or drug-selection approach is currently established.
Gene function
What if the gene works
Many of your body's busiest cells need a steady energy supply. Inside mitochondria, the ATP23 gene helps assemble ATP synthase, a protein machine that makes ATP, the cell's main energy source. When this process runs smoothly, cells can carry out routine tasks more smoothly.
The ATP23 gene helps put together ATP synthase, the enzyme that makes ATP from the energy released as cells use food and oxygen. This work takes place in mitochondria, the parts of cells that provide most of your body's usable energy.
Its protein supports the later steps of assembly so the ATP synthase complex is fitted together correctly. By helping this system come together, the ATP23 gene supports how cells make energy in mitochondria each day.
What is a variant?
A genetic variant is a small change in the DNA sequence within a gene. These changes are common and help shape normal human diversity, such as differences in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the ATP23 gene can change the protein’s shape, stability, or amount, which may weaken its role in building the mitochondrial ATP synthase complex. In ATP23 gene variant effects on mitochondrial ATP synthase assembly, milder missense changes may leave some activity, while more disruptive splice, nonsense, or frameshift variants can sharply reduce or eliminate function. Cells may then make less fully assembled ATP synthase.
How variants are linked to conditions
At present, the ATP23 gene does not have a broadly confirmed link to a specific health condition in routine human genetics, so information about how ATP23 gene variants are linked to conditions is still developing. As research grows, this picture may change, and anyone with a confirmed diagnosis involving the ATP23 gene should rely on guidance from their doctor or genetic counselor for interpretation.
A variant is not necessarily a diagnosis
Genetic variants are common across the general population and are a normal feature of human biology. Most do not directly affect health and simply contribute to natural human diversity. For many genes, having a variant associated with a condition points to a possible link rather than a confirmed diagnosis, particularly when several genes and environmental influences play a role. In other situations, though, one well-characterized variant in a particular gene is enough to establish a diagnosis.
Are there things that can increase or change my risk?
There isn't yet broadly confirmed evidence on specific factors that increase or reduce health risk related to the ATP23 gene. Anyone with concerns about personal or family risk can speak with a doctor or genetic counselor.
Inheritance of ATP23 variants
There is not yet a broadly confirmed disease specific inheritance pattern for the ATP23 gene, so how ATP23 variants are inherited in relation to a defined health condition is still being worked out. ATP23 is located on an autosome, which means you inherit one copy from your mother and one copy from your father.
What does my ATP23 result mean for my family?
There isn't yet a broadly confirmed inheritance pattern tied to a specific condition for ATP23, though this understanding can change as research develops. If you have a specific ATP23 result and questions about what it could mean for your family, a doctor or genetic counselor can explain it in the context of your personal and family history.
Genetic information
Genetic testing
How you find out about variants
ATP23 genetic testing looks for variants in the ATP23 gene using a blood or saliva sample. Labs usually read the gene with sequencing, often as part of a broader mitochondrial or exome test, and compare the DNA code with a reference sequence. Results may show a benign variant, a variant linked to disease, or a variant of uncertain significance.
When should I consider getting a genetic test?
There isn't yet a broadly established, ATP23-specific clinical reason for genetic testing. Testing choices are usually based on your symptoms, family history, and whether a doctor or genetic counselor thinks broader genetic testing could be helpful.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but how much it explains depends on the condition and the kind of variant involved. Other factors, including lifestyle, environment, age, and medical history, also affect how the body functions over time. For some conditions, especially those shaped by many genes, genetic information offers context rather than certainty and is most helpful when viewed alongside the rest of a person’s care. In other situations, a genetic result can give a clear answer. In areas such as medication response, genetic results may also help put a person’s experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Some people break down a drug more slowly or more quickly, while others may be more or less sensitive to its effects. This helps explain why the same treatment can work well for one person, have less effect in another, or cause more side effects in someone else.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences shape a person’s response to medications. It studies the relationship between genes and drugs to help explain why the same treatment may work differently in different people. For many medicines, genes influence how strongly a drug works or how the body processes it. This information can support more informed, individualized treatment decisions. You can learn more about this topic in the LearnHub.
Drugs influenced by the ATP23 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choice or response, so general concerns about symptoms, side effects, or treatment decisions are best discussed with your doctor.